Variant report

Variant	rs73468335
Chromosome Location	chr11:45905072-45905073
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45905054-45905273	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:45904922-45905442	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:45902825-45907143	K562	blood:	n/a	n/a
4	POLR2A	chr11:45904998-45905607	K562	blood:	n/a	n/a
5	POLR2A	chr11:45904946-45905689	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45904999..45908778-chr11:45926674..45929138,4	MCF-7	breast:
2	chr11:45872396..45874327-chr11:45903903..45905625,2	K562	blood:
3	chr11:45888702..45891057-chr11:45904911..45907023,2	MCF-7	breast:
4	chr11:45869749..45872196-chr11:45903148..45905376,2	K562	blood:
5	chr11:45904326..45907019-chr11:45920750..45923690,3	MCF-7	breast:
6	chr11:45904421..45905932-chr11:45912544..45914291,2	MCF-7	breast:
7	chr11:45869438..45872196-chr11:45903876..45906831,3	K562	blood:
8	chr11:45904585..45907305-chr11:45939491..45941669,2	K562	blood:
9	chr11:45904574..45907083-chr11:45920026..45922634,2	MCF-7	breast:
10	chr11:45903829..45906224-chr11:45943432..45945936,3	K562	blood:

No data

Variant related genes	Relation type
MAPK8IP1	TF binding region
ENSG00000255498	Chromatin interaction
ENSG00000165905	Chromatin interaction
ENSG00000121680	Chromatin interaction
ENSG00000234776	Chromatin interaction
ENSG00000121671	Chromatin interaction
ENSG00000121653	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10838523	0.87[AFR][1000 genomes]
rs11038654	0.84[EUR][1000 genomes]
rs11038656	0.84[EUR][1000 genomes]
rs12271020	0.84[EUR][1000 genomes]
rs12272338	0.84[EUR][1000 genomes]
rs12272905	0.84[EUR][1000 genomes]
rs12282904	0.84[EUR][1000 genomes]
rs12289812	0.84[EUR][1000 genomes]
rs12291940	0.84[EUR][1000 genomes]
rs12295162	0.84[EUR][1000 genomes]
rs2593736	0.84[EUR][1000 genomes]
rs28826038	0.84[EUR][1000 genomes]
rs58409282	1.00[ASN][1000 genomes]
rs73466377	0.84[EUR][1000 genomes]
rs73468311	0.89[AFR][1000 genomes]
rs73468338	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480518	0.84[EUR][1000 genomes]
rs9300053	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1047462	chr11:45898630-45953696	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv516442	chr11:45899962-45983385	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1794798	chr11:45903280-45953636	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45875200-45905600	Strong transcription	Primary T cells from cord blood	blood
2	chr11:45881200-45905200	Strong transcription	Fetal Intestine Large	intestine
3	chr11:45882600-45905200	Strong transcription	Liver	Liver
4	chr11:45885800-45906400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:45893000-45906800	Weak transcription	HSMM	muscle
6	chr11:45893200-45906600	Weak transcription	Small Intestine	intestine
7	chr11:45895000-45907200	Weak transcription	HUVEC	blood vessel
8	chr11:45895400-45906800	Weak transcription	NH-A	brain
9	chr11:45898600-45906200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:45898600-45906600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:45898600-45906800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:45898600-45906800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:45898800-45906400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:45898800-45906800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:45898800-45907200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:45899400-45906600	Weak transcription	GM12878-XiMat	blood
17	chr11:45899800-45906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:45900200-45906800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:45900400-45906600	Weak transcription	HepG2	liver
20	chr11:45901000-45905400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:45901400-45906600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr11:45901800-45906600	Strong transcription	Fetal Intestine Small	intestine
23	chr11:45901800-45906800	Weak transcription	NHEK	skin
24	chr11:45902200-45906600	Weak transcription	Hela-S3	cervix
25	chr11:45902200-45906800	Weak transcription	HMEC	breast
26	chr11:45902400-45905600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:45902400-45906800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:45902600-45906800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:45902800-45905400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:45902800-45906600	Weak transcription	Fetal Brain Male	brain
31	chr11:45902800-45906800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:45902800-45907000	Weak transcription	Psoas Muscle	Psoas
33	chr11:45903000-45905200	Strong transcription	Adipose Nuclei	Adipose
34	chr11:45903000-45906600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:45903000-45906600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:45903000-45906600	Weak transcription	Fetal Lung	lung
37	chr11:45903200-45907200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:45903200-45907200	Weak transcription	NHDF-Ad	bronchial
39	chr11:45903400-45905600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr11:45903400-45906400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:45903400-45906600	Weak transcription	Stomach Mucosa	stomach
42	chr11:45903400-45906800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:45903400-45906800	Weak transcription	A549	lung
44	chr11:45903600-45905200	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:45903600-45905400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:45903600-45905400	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:45903600-45905600	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:45903600-45906400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:45903600-45906600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:45903800-45905400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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